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Diagnostics
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Genetics and Clinicopathological Features in Retinal Diseases: Opportunities and Progress
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Genetics and Clinicopathological Features in Retinal Diseases: Opportunities and Progress

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 December 2023) | Viewed by 5258

Special Issue Editor

Dr. Andrew S.H. Tsai

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Guest Editor
Singapore National Eye Centre, Singapore City, Singapore
Interests: genotype–phenotype correlation in retinal diseases; pediatric retinal vascular diseases; surgical retina

Special Issue Information

Dear Colleagues,

Understanding the underlying genetics behind various retinal diseases will pave the way for the future of precision medicine. As early as the 1970s, the first proof of principle ex vivo experiments has led to the proposal that gene therapy could be used to treat inherited monogenic disorders. The eye is a unique target as it is relatively immune-privileged. In 2017, the FDA first approved Voretigene Neparvovec for the treatment of bi-allelic RPE65 mutation associated retinal dystrophy. Since then, there has a been a proliferation of phase 1 to 3 trials treating various retinal diseases such as retinitis pigmentosa, achromatopsia, choroideremia, lebers hereditary optic neuropathy, X-linked juvenile retinoschisis, Stargardt’s disease and many others.

It is imperative that we increase our understanding of the genotype–phenotype correlation in various retinal diseases, in order to possibly develop treatment targets in the future.

This Special Issue aims to provide a platform and forum for scientists to showcase their research, ideas and novel findings. We aim to gather contributions from all aspects related to the genetics and clinical findings in retinal diseases that. We hope to increase the knowledge base in relation to this topic.

Dr. Andrew S.H. Tsai
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetics of retinal diseases
  • genotype–phenotype correlation
  • gene therapy
  • genetic analysis

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Published Papers (3 papers)

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Research

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15 pages, 22246 KiB  
Article
Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes
by Tien-En Tan, Rachael Wei Chao Tang, Choi Mun Chan, Ranjana S. Mathur and Beau J. Fenner
Diagnostics 2023, 13(23), 3530; https://doi.org/10.3390/diagnostics13233530 - 25 Nov 2023
Cited by 1 | Viewed by 1302
Abstract
(1) Purpose: ABCA4-associated retinal degeneration (ABCA4-RD) is a phenotypically diverse disease that often evades diagnosis, even by experienced retinal specialists. This may lead to inappropriate management, delayed genetic testing, or inaccurate interpretation of genetic testing results. Here, we illustrate the [...] Read more.
(1) Purpose: ABCA4-associated retinal degeneration (ABCA4-RD) is a phenotypically diverse disease that often evades diagnosis, even by experienced retinal specialists. This may lead to inappropriate management, delayed genetic testing, or inaccurate interpretation of genetic testing results. Here, we illustrate the phenotypic diversity of ABCA4-RD using a series of representative cases and compare these to other conditions that closely mimic ABCA4-RD. (2) Methods: Genetically confirmed ABCA4-RD cases with representative phenotypes were selected from an inherited retinal disease cohort in Singapore and compared to phenocopies involving other retinal diseases. (3) Results: ABCA4-RD phenotypes in this series included typical adolescent-onset Stargardt disease with flecks, bull’s eye maculopathy without flecks, fundus flavimaculatus, late-onset Stargardt disease, and severe early-onset Stargardt disease. Phenocopies of ABCA4-RD in this series included macular dystrophy, pattern dystrophy, cone dystrophy, advanced retinitis pigmentosa, Leber congenital amaurosis, drug toxicity, and age-related macular degeneration. Key distinguishing features that often suggested a diagnosis of ABCA4-RD were the presence of peripapillary sparing, macular involvement and centrifugal distribution, and a recessive pedigree. (4) Conclusions: ABCA4-RD demonstrates a remarkable phenotypic spectrum that makes diagnosis challenging. Awareness of the clinical spectrum of disease can facilitate prompt recognition and accurate diagnostic testing. Full article
(This article belongs to the Special Issue Genetics and Clinicopathological Features in Retinal Diseases: Opportunities and Progress)
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10 pages, 418 KiB  
Article
Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration
by Hung-Da Chou, Yih-Shiou Hwang, Kuan-Jen Chen, Wei-Chi Wu, Laura Liu, Shyh-Tyan Ou, Webber Liao, Cheng-Chi Wang, Tom Lin and Chi-Chun Lai
Diagnostics 2023, 13(14), 2411; https://doi.org/10.3390/diagnostics13142411 - 19 Jul 2023
Viewed by 1433
Abstract
Age-related macular degeneration (AMD) may be associated with ABCA4 variants and is characterized by the accumulation of visual cycle-byproduct lipofuscin. Reducing retinol-binding protein 4 (RBP4), a retinol transporter protein, may reduce lipofuscin production. This study aims to assess the associations between plasma RBP4, [...] Read more.
Age-related macular degeneration (AMD) may be associated with ABCA4 variants and is characterized by the accumulation of visual cycle-byproduct lipofuscin. Reducing retinol-binding protein 4 (RBP4), a retinol transporter protein, may reduce lipofuscin production. This study aims to assess the associations between plasma RBP4, the ABCA4 variation, and AMD severity. Sixty-seven participants were grouped into healthy/mild AMD (n = 32) and severe AMD (n = 35) groups. The latter group was older than the former group and had higher levels of RBP4 (36.8 ± 8.3 vs. 30.4 ± 7.0 μg/mL, p = 0.0012). The ten participants with six ABCA4 linked-variants had higher RBP4 than those without (37.8 ± 7.7 vs. 32.4 ± 7.9 μg/mL; p = 0.026), and eight of them had severe AMD. Univariate analyses showed that severe AMD was related to older age (OR, 1.26; 95% CI, 1.13–1.40; p < 0.0001) and to higher RBP4 levels (OR, 1.12; 95% CI, 1.04–1.20; p = 0.003), whereas the linked ABCA4 variants had no associations. After adjustment, however, only age remained significantly associated with severe AMD. This pilot study shows a trend of higher plasma RBP4 levels in severe AMD or the ABCA4-linked variants, and further age-matched studies are warranted. Full article
(This article belongs to the Special Issue Genetics and Clinicopathological Features in Retinal Diseases: Opportunities and Progress)
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Review

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23 pages, 7621 KiB  
Review
The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide
by Tsai-Hsuan Yang, Eugene Yu-Chuan Kang, Pei-Hsuan Lin, Pei-Liang Wu, Jacob Aaron Sachs and Nan-Kai Wang
Diagnostics 2023, 13(19), 3041; https://doi.org/10.3390/diagnostics13193041 - 25 Sep 2023
Cited by 3 | Viewed by 1902
Abstract
Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina [...] Read more.
Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively. Despite the growing availability of next-generation sequencing (NGS) technology, identifying the precise genetic mutation causing an IRD can be challenging and costly. However, certain types of IRDs present with unique ERG features that can help guide genetic testing. By combining these ERG findings with other clinical information, such as on family history and retinal imaging, physicians can effectively narrow down the list of candidate genes to be sequenced, thereby reducing the cost of genetic testing. This review article focuses on certain types of IRDs with unique ERG features. We will discuss the pathophysiology and clinical presentation of, and ERG findings on, these disorders, emphasizing the unique role ERG plays in their diagnosis and genetic testing. Full article
(This article belongs to the Special Issue Genetics and Clinicopathological Features in Retinal Diseases: Opportunities and Progress)
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